Variant report

Variant	rs9368931
Chromosome Location	chr6:36387580-36387581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36386192..36388586-chr6:36389623..36392544,5	K562	blood:
2	chr6:36351929..36354847-chr6:36386125..36388786,2	MCF-7	breast:
3	chr6:36164113..36166132-chr6:36386693..36388231,2	K562	blood:
4	chr6:36386647..36388382-chr6:36410024..36412476,2	MCF-7	breast:
5	chr6:36386467..36388815-chr6:36389066..36391918,3	MCF-7	breast:
6	chr6:36386896..36388748-chr6:36409208..36410875,2	MCF-7	breast:
7	chr6:36387051..36388586-chr6:36389623..36391841,2	K562	blood:
8	chr6:36379225..36383506-chr6:36385017..36389096,5	K562	blood:
9	chr6:36385781..36389716-chr6:36561820..36563529,3	MCF-7	breast:
10	chr6:36386854..36389830-chr6:36585117..36586872,2	MCF-7	breast:
11	chr6:36384824..36387728-chr6:36409313..36412170,3	K562	blood:
12	chr6:36379225..36382652-chr6:36387378..36390087,3	K562	blood:
13	chr6:36384943..36388342-chr6:36562138..36564282,3	K562	blood:
14	chr6:36386375..36388666-chr6:36396163..36398250,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224666	Chromatin interaction
ENSG00000246982	Chromatin interaction
ENSG00000096070	Chromatin interaction
ENSG00000179165	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000112078	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10440841	0.85[YRI][hapmap]
rs1076928	0.96[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1076929	0.82[JPT][hapmap]
rs11757823	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13210133	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2071809	0.85[CHB][hapmap]
rs2145749	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2187810	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2234064	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2234071	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3798480	1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4295471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4308555	0.87[JPT][hapmap]
rs522179	0.94[AFR][1000 genomes]
rs544267	0.85[YRI][hapmap]
rs56077076	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs566742	0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs584418	0.80[AFR][1000 genomes]
rs597153	0.80[AFR][1000 genomes]
rs629297	0.83[AFR][1000 genomes]
rs664370	0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs6905318	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6906885	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6919571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928048	0.86[JPT][hapmap]
rs6931970	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755006	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7765868	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7766404	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7771459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs881647	0.81[EUR][1000 genomes]
rs9296180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296182	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9357212	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357213	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9366904	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368924	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9368926	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9368928	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9368929	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368930	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368936	0.82[CHB][hapmap]
rs9380569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394350	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462182	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9470270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470274	0.84[YRI][hapmap]
rs9470278	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9368931	ETV7	cis	Whole Blood	GTEx
rs9368931	ETV7	cis	lung	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36382800-36390200	Weak transcription	Fetal Intestine Small	intestine
2	chr6:36382800-36390600	Weak transcription	HUVEC	blood vessel
3	chr6:36386000-36388200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:36386000-36388400	Enhancers	Hela-S3	cervix
5	chr6:36386200-36387800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:36386200-36387800	Enhancers	HMEC	breast
7	chr6:36386200-36387800	Enhancers	NHEK	skin
8	chr6:36386200-36388000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:36386600-36388000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:36386600-36388200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:36386600-36390000	Weak transcription	Pancreas	Pancrea
12	chr6:36386600-36390400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:36386600-36390600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:36386600-36390600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:36386800-36388400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr6:36386800-36390600	Weak transcription	Placenta	Placenta
17	chr6:36386800-36390800	Weak transcription	Esophagus	oesophagus
18	chr6:36386800-36391200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:36387000-36390600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:36387200-36387800	Enhancers	Primary neutrophils fromperipheralblood	blood

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